rs2853707
This variant is located in the CX3CR1 gene.
▶Research that mentions this SNP (1)
▶Prospective Study of Common Variants inCX3CR1and Risk of Macular DegenerationAssociationN=3,642Debra A. Schaumberg et al.(2014)· JAMA Ophthalmology
A prospective nested case-control study pooled from five large cohorts examining 15 CX3CR1 SNPs (including T280M and V249I) in 1,110 AMD cases (369 neovascular AMD) and 2,532 controls. No significant associations with AMD were found for the candidate variants T280M (RR=0.87, P=0.074) or V249I (RR=1.01, P=0.82) after multiple comparisons correction. Some CX3CR1 variants showed nominal associations with neovascular AMD in recessive models (rs2669845 RR=3.10 P=0.035, rs9868689 RR=0.31 P=0.017, rs2853707 RR=0.48 P=0.050), with possible gene-environment and gene-gene interactions identified.
About CX3CR1
Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
View all CX3CR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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